X-linked intellectual disability, Pai type
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- X-linked recessive
- Age of onset
- Childhood, Infancy
- Status
- active
A rare X-linked syndromic intellectual disability characterized by global developmental delay and severe intellectual disability, seizures, and recurrent lower respiratory tract infections, resulting in premature death in affected males. Additional reported manifestations include mild dysmorphic facial features (such as epicanthic folds, high nasal bridge, or small mouth), gait disturbances, brisk tendon reflexes, delayed bone age, and tapering fingers. No evident heterozygous manifestation has been reported in females.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | X-linked intellectual disability, Pai type | |
| fr | Déficience intellectuelle liée à l'X type Pai | |
| de | Intelligenzminderung, X-chromosomale, Typ Pai | |
| es | Discapacidad intelectual ligada al cromosoma X tipo Pai | |
| it | Disabilità intellettiva legata all'X, tipo Pai | |
| nl | X-gebonden intellectuele achterstand, Pai-type | |
| pt | Perturbação do desenvolvimento intelectual ligada ao X, tipo Pai | |
| pl | Niepełnosprawność intelektualna typu Pai sprzężona z chromosomem X | |
| cs | X-vázaná mentální retardace, Paiův typ | |
| uk | Х-зчеплена розумова відсталість, тип Пай | |
| zh | X连锁智力障碍，Pai型 | |
| tr | X'e bağlı zihinsel yetersizlik, Pai tipi |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | Q87.8 | NTBT | attributed | validated |
| ICD-11 | LD90 | NTBT | attributed | validated |
| MONDO | 0019420 | E | validated | |
| UMLS | C4305026 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (2):
- ORPHA:611327Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability
rare genetic diseases - ORPHA:102283Multiple congenital anomalies/dysmorphic syndrome-intellectual disability
rare developmental anomalies during embryogenesis; rare neurological diseases
No children.
Genes
0 directOrphanet records no gene directly on this code.
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 1 families | Worldwide | Family(ies) | Validated | 9222958[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_9222958[PMID] |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
HPO phenotypes
18 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0001263 | Global developmental delay | |
| HP:0010864 | Intellectual disability, severe | |
| HP:0002205 | Recurrent respiratory infections | |
| HP:0001250 | Seizure | |
| Frequent (79-30%) | ||
| HP:0000750 | Delayed speech and language development | |
| HP:0001511 | Intrauterine growth retardation | |
| Occasional (29-5%) | ||
| HP:0000028 | Cryptorchidism | |
| HP:0002750 | Delayed skeletal maturation | |
| HP:0000286 | Epicanthus | |
| HP:0001288 | Gait disturbance | |
| HP:0000034 | Hydrocele testis | |
| HP:0001276 | Hypertonia | |
| HP:0000023 | Inguinal hernia | |
| HP:0000160 | Narrow mouth | |
| HP:0000426 | Prominent nasal bridge | |
| HP:0000411 | Protruding ear | |
| HP:0002510 | Spastic tetraplegia | |
| HP:0001182 | Tapered finger | |
Run the differential on the 4 obligate / very frequent terms
Annotation source: 9222958[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/85322
- This record as JSON: /data/d/85322.json